The delta327 mutation in the Fanconi anemia group C gene generates a novel transcript lacking the first two coding exons.
Parker
L
L
Department of Genetics, Research Institute, Hospital for Sick Children, Toronto, Ontario, Canada.
dos Santos
C
C
Buchwald
M
M
D001483:Base Sequence; D018797:Cell Cycle Proteins; D002460:Cell Line; D004252:DNA Mutational Analysis; D018076:DNA, Complementary / Q000737:chemistry / Q000235:genetics; D004268:DNA-Binding Proteins; D005199:Fanconi Anemia / Q000235:genetics* / Q000473:pathology; D052218:Fanconi Anemia Complementation Group C Protein; D051856:Fanconi Anemia Complementation Group Proteins; D006801:Humans; D009687:Nuclear Proteins; D011506:Proteins / Q000235:genetics*; D020133:Reverse Transcriptase Polymerase Chain Reaction; D017384:Sequence Deletion
D018797:Cell Cycle Proteins; D018076:DNA, Complementary; D004268:DNA-Binding Proteins; C497651:FANCC protein, human; D052218:Fanconi Anemia Complementation Group C Protein; D051856:Fanconi Anemia Complementation Group Proteins; D009687:Nuclear Proteins; D011506:Proteins